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Mutation detection of COL4An gene based on mRNA of peripheral blood lymphocytes and prenatal diagnosis of Alport syndrome in China.

Nephrology (Carlton, Vic.) - 1 May 2011

Zhang Hongwen, Ding Jie, Wang Fang, Zhao Dan

Abstract excerpt

AIM: Alport syndrome (AS) is a progressive renal disease characterized by haematuria and progressive renal failure. An accurate genetic diagnosis of AS is very important for genetic counselling and even prenatal diagnosis. METHODS: We detected mutation of COL4An by amplifying the entire coding se...

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PMID: 21143337
DOI: 10.1111/j.1440-1797.2010.01438.x

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SRY

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21143337-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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